Pubblicazioni

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Rajagopalan, Ramakrishnan; Grochowski, Christopher M.; Gilbert, Melissa A.; Falsey, Alexandra M.; Coleman, Karlene; Romero, Rene; Loomes, Kathleen M.; Piccoli, David A.; Devoto, Marcella; Spinner, Nancy B.

Congenital immunodeficiency in an individual with WiedemannÃ¢ÂÂSteiner syndrome due to a novel missense mutation in KMT2A

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Stellacci, Emilia; Onesimo, Roberta; Bruselles, Alessandro; Pizzi, Simone; Battaglia, Domenica; Leoni, Chiara; Zampino, Giuseppe; Tartaglia, Marco

Pubblicazioni

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

Congenital immunodeficiency in an individual with WiedemannÃ¢ÂÂSteiner syndrome due to a novel missense mutation in KMT2A

Congenital immunodeficiency in an individual with WiedemannÃ¢ÂÂSteiner syndrome due to a novel missense mutation in KMT2A